Niemann-Pick disease overview
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Overview
Niemann-Pick disease is an autosomal recessive disorder affecting lipid metabolism (the breakdown and use of fats and cholesterol in the body), in a way which causes harmful amounts of lipids to accumulate in the spleen, liver, lungs, bone marrow, and brain.
There are three variants of Niemann-Pick disease based on the genetic cause and the symptoms exhibited by the patient.